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NM_005476.7(GNE):c.1567C>G (p.Leu523Val) AND GNE myopathy

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 14, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000670215.1

Allele description [Variation Report for NM_005476.7(GNE):c.1567C>G (p.Leu523Val)]

NM_005476.7(GNE):c.1567C>G (p.Leu523Val)

Gene:
GNE:glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9p13.3
Genomic location:
Preferred name:
NM_005476.7(GNE):c.1567C>G (p.Leu523Val)
HGVS:
  • NC_000009.12:g.36222843G>C
  • NG_008246.1:g.59202C>G
  • NM_001128227.3:c.1660C>G
  • NM_001190383.3:c.1411+530C>G
  • NM_001190384.3:c.1237C>G
  • NM_001190388.2:c.1390C>G
  • NM_001374797.1:c.1414C>G
  • NM_001374798.1:c.1390C>G
  • NM_005476.7:c.1567C>GMANE SELECT
  • NP_001121699.1:p.Leu554Val
  • NP_001177313.1:p.Leu413Val
  • NP_001177317.2:p.Leu464Val
  • NP_001361726.1:p.Leu472Val
  • NP_001361727.1:p.Leu464Val
  • NP_005467.1:p.Leu523Val
  • LRG_1197t1:c.1660C>G
  • LRG_1197t2:c.1567C>G
  • LRG_1197:g.59202C>G
  • LRG_1197p1:p.Leu554Val
  • LRG_1197p2:p.Leu523Val
  • NC_000009.11:g.36222840G>C
  • NM_001128227.2:c.1660C>G
Protein change:
L413V
Links:
dbSNP: rs1554658905
NCBI 1000 Genomes Browser:
rs1554658905
Molecular consequence:
  • NM_001190383.3:c.1411+530C>G - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001128227.3:c.1660C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190384.3:c.1237C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001190388.2:c.1390C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374797.1:c.1414C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001374798.1:c.1390C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005476.7:c.1567C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
GNE myopathy (NM)
Synonyms:
Nonaka myopathy; Nonaka distal myopathy; INCLUSION BODY MYOPATHY, HEREDITARY, AUTOSOMAL RECESSIVE; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0011603; MedGen: C1853926; Orphanet: 602; OMIM: 605820

Recent activity

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000795045Counsyl
criteria provided, single submitter

(Counsyl Autosomal Recessive and X-Linked Classification Criteria (2018))		Uncertain significance
(Nov 14, 2017) 		unknownclinical testing

Citation Link

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Counsyl, SCV000795045.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Dec 11, 2022